A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416735



Internal ID195952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48241274..48241325hg38UCSC Ensembl
chr15:48533471..48533522hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699807
Samples
Known GenesSLC12A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416735
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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